ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829515173
Gene: COCH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1507984
ClinVar RCV Id:
RCV002040300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004077.1:p.Ala513Pro
CA389349556
NM_004086.3:c.1537G>C